5 Questions
Which gene is most commonly associated with pathogenic variants in patients with Genetics NS?
PTPN11
What is the genetic basis in the remainder of patients who do not have a pathogenic variant in the PTPN11 gene?
Genes encoding proteins of the Ras-MAPK pathway
What is the protein encoded by the PTPN11 gene?
SHP2
Approximately what percentage of NS may be underpinned by pathogenic variants in the LZTR1 gene?
10 percent
Which cellular functions is the Ras-MAPK pathway signaling crucial to?
Proliferation and differentiation
Learn about the genetic basis of Noonan syndrome (NS) and the role of the PTPN11 gene in this autosomal-dominant condition. Understand the prevalence of de novo pathogenic variants and the role of the protein SHP2 encoded by the PTPN11 gene.
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